Variant report

Variant	esv3421891
Chromosome Location	chr6:36806599-36809147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:611)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:36808792-36809020	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:36808333-36808388	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:36807657-36808006	K562	blood:	n/a	chr6:36807737-36807753
4	BRCA1	chr6:36807195-36807287	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr6:36807676-36807950	K562	blood:	n/a	n/a
6	CCNT2	chr6:36807510-36808033	K562	blood:	n/a	n/a
7	CCNT2	chr6:36807079-36807167	K562	blood:	n/a	n/a
8	CCNT2	chr6:36808362-36808434	K562	blood:	n/a	n/a
9	CCNT2	chr6:36808803-36808986	K562	blood:	n/a	n/a
10	CEBPB	chr6:36807192-36807281	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr6:36808813-36808815	HepG2	liver:	n/a	n/a
12	CREB1	chr6:36807440-36808123	K562	blood:	n/a	n/a
13	CTBP2	chr6:36807924-36809045	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr6:36806804-36807708	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr6:36807680-36807830	AG09309	skin:	n/a	chr6:36807713-36807726
16	CTCF	chr6:36807763-36807847	GM12878	blood:	n/a	n/a
17	CTCF	chr6:36807740-36807890	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr6:36807810-36807877	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr6:36807785-36807879	GM10266	blood:	n/a	n/a
20	CTCF	chr6:36807768-36807844	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr6:36807680-36807830	HRPEpiC	eye:	n/a	chr6:36807713-36807726
22	CTCF	chr6:36807850-36807858	HepG2	liver:	n/a	n/a
23	CTCF	chr6:36807710-36807901	H1-hESC	embryonic stem cell:	n/a	chr6:36807713-36807726
24	CTCF	chr6:36807760-36807910	GM12867	blood:	n/a	n/a
25	CTCF	chr6:36807400-36807550	K562	blood:	n/a	n/a
26	CTCF	chr6:36807765-36807863	GM20000	blood:	n/a	n/a
27	CTCF	chr6:36807507-36808105	K562	blood:	n/a	chr6:36807713-36807726
28	CTCF	chr6:36807698-36807914	Fibrobl	skin:	n/a	chr6:36807713-36807726
29	CTCF	chr6:36807740-36807890	BJ	skin:	n/a	n/a
30	CTCF	chr6:36807720-36807870	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr6:36807707-36807922	MCF-7	breast:	n/a	chr6:36807713-36807726
32	CTCF	chr6:36807720-36807870	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr6:36807720-36807870	Caco-2	colon:	n/a	n/a
34	CTCF	chr6:36807660-36807810	GM12874	blood:	n/a	chr6:36807713-36807726
35	CTCF	chr6:36807693-36807914	LNCaP	prostate:	n/a	chr6:36807713-36807726
36	CTCF	chr6:36807380-36807530	AG04449	skin:	n/a	n/a
37	CTCF	chr6:36807720-36807870	HEK293	kidney:	n/a	n/a
38	CTCF	chr6:36807692-36807792	MCF-7	breast:	n/a	chr6:36807713-36807726
39	CTCF	chr6:36807740-36807890	GM12866	blood:	n/a	n/a
40	CTCF	chr6:36807640-36807790	RPTEC	kidney:	n/a	chr6:36807713-36807726
41	CTCF	chr6:36807800-36807950	K562	blood:	n/a	n/a
42	CTCF	chr6:36807740-36807890	HMF	breast:	n/a	n/a
43	CTCF	chr6:36807820-36807970	SAEC	small airway:	n/a	n/a
44	CTCF	chr6:36807660-36807810	HCPEpiC	choroid plexus:	n/a	chr6:36807713-36807726
45	CTCF	chr6:36807740-36807890	NB4	blood:	n/a	n/a
46	CTCF	chr6:36807720-36807870	AG09319	gingival:	n/a	n/a
47	CTCF	chr6:36807720-36807870	GM12872	blood:	n/a	n/a
48	CTCF	chr6:36807657-36807960	IMR90	lung:	n/a	chr6:36807713-36807726
49	CTCF	chr6:36807700-36807850	SK-N-SH_RA	brain:	n/a	chr6:36807713-36807726
50	CTCF	chr6:36807720-36807870	GM06990	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:36808414-36808464	HUVEC	blood vessel:	n/a
2	chr6:36808414-36808464	HUVEC	blood vessel:	n/a
3	chr6:36807982-36808032	HCPEpiC	choroid plexus:	n/a
4	chr6:36807982-36808032	Jurkat	blood:	n/a
5	chr6:36808207-36808257	HepG2	liver:	n/a
6	chr6:36808207-36808257	MCF-7	breast:	n/a
7	chr6:36806882-36806932	HRE	kidney:	n/a
8	chr6:36808207-36808257	LNCaP	prostate:	n/a
9	chr6:36808894-36808944	ovcar-3	ovarian:	n/a
10	chr6:36808414-36808464	MCF-7	breast:	n/a
11	chr6:36807759-36807809	HIPEpiC	eye:	n/a
12	chr6:36808696-36808746	HEEpiC	esophagus:	n/a
13	chr6:36807193-36807243	GM12878	blood:	n/a
14	chr6:36807759-36807809	HRCEpiC	kidney:	n/a
15	chr6:36808696-36808746	SK-N-SH_RA	brain:	n/a
16	chr6:36807193-36807243	AG10803	skin:	n/a
17	chr6:36808414-36808464	HepG2	liver:	n/a
18	chr6:36808207-36808257	HL-60	blood:	n/a
19	chr6:36807982-36808032	MCF-7	breast:	n/a
20	chr6:36808696-36808746	AoSMC	blood vessel:	n/a
21	chr6:36806882-36806932	GM12891	blood:	n/a
22	chr6:36807982-36808032	SK-N-SH_RA	brain:	n/a
23	chr6:36808894-36808944	Caco-2	colon:	n/a
24	chr6:36806882-36806932	GM06990	blood:	n/a
25	chr6:36807193-36807243	Caco-2	colon:	n/a
26	chr6:36807623-36807673	HEEpiC	esophagus:	n/a
27	chr6:36807759-36807809	HNPCEpiC	eye:	n/a
28	chr6:36807623-36807673	NH-A	brain:	n/a
29	chr6:36808494-36808544	MCF10A-Er-Src	breast:	n/a
30	chr6:36808207-36808257	NH-A	brain:	n/a
31	chr6:36807982-36808032	GM06990	blood:	n/a
32	chr6:36806882-36806932	GM12878	blood:	n/a
33	chr6:36807982-36808032	BE2_C	brain:	n/a
34	chr6:36807759-36807809	NHBE	bronchial:	n/a
35	chr6:36806882-36806932	A549	lung:	n/a
36	chr6:36808894-36808944	MCF10A-Er-Src	breast:	n/a
37	chr6:36808894-36808944	HEEpiC	esophagus:	n/a
38	chr6:36807982-36808032	AG09309	skin:	n/a
39	chr6:36807193-36807243	LNCaP	prostate:	n/a
40	chr6:36807193-36807243	K562	blood:	n/a
41	chr6:36807623-36807673	NHDF-neo	bronchial:	n/a
42	chr6:36807759-36807809	HEK293	kidney:	embryo
43	chr6:36808696-36808746	Caco-2	colon:	n/a
44	chr6:36808414-36808464	SKMC	muscle:	n/a
45	chr6:36808894-36808944	NHDF-neo	bronchial:	n/a
46	chr6:36808894-36808944	HEK293	kidney:	embryo
47	chr6:36807623-36807673	HRCEpiC	kidney:	n/a
48	chr6:36807759-36807809	GM12892	blood:	n/a
49	chr6:36807193-36807243	T-47D	breast:	n/a
50	chr6:36806882-36806932	Jurkat	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36759479..36761835-chr6:36805392..36807104,2	MCF-7	breast:
2	chr6:36803997..36809047-chr6:36852852..36856509,4	K562	blood:
3	chr6:36804882..36807604-chr6:36813482..36815194,2	MCF-7	breast:
4	chr6:36807524..36809361-chr6:36841077..36843091,2	K562	blood:
5	chr6:36808554..36811671-chr6:36814361..36817752,3	MCF-7	breast:
6	chr6:36804125..36806992-chr6:36952553..36954934,2	K562	blood:
7	chr6:36804125..36807562-chr6:36952553..36955386,3	K562	blood:
8	chr6:36807086..36809328-chr6:36841078..36843476,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CPNE5-1	chr6:36807550-36808916	XLOC_005701

No data

Variant related genes	Relation type
CPNE5	TF binding region
CPNE5	CpG island
ENSG00000137168	chromatin interactions
ENSG00000137409	chromatin interactions
ENSG00000198663	chromatin interactions
CHD1	miRNA target sites

Extended variants
information (count: 82 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553183486	chr6:36806645-36806646	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372205176	chr6:36806664-36806665	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531548497	chr6:36806669-36806670	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs72846041	chr6:36806679-36806680	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573039270	chr6:36806699-36806700	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs541779123	chr6:36806712-36806713	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376676274	chr6:36806735-36806736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189059841	chr6:36806753-36806754	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547032035	chr6:36806816-36806817	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs565668828	chr6:36806859-36806860	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs193016884	chr6:36806908-36806909	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs9470415	chr6:36806926-36806927	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544582646	chr6:36806933-36806934	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs149432528	chr6:36806946-36806947	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs376782891	chr6:36806958-36806959	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs578171696	chr6:36806970-36806971	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs539129651	chr6:36807001-36807002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554234321	chr6:36807026-36807027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201691739	chr6:36807062-36807063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373616222	chr6:36807105-36807106	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs368691298	chr6:36807110-36807111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201480226	chr6:36807154-36807155	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs371123592	chr6:36807157-36807158	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs183702303	chr6:36807161-36807162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs118013238	chr6:36807323-36807324	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs576210382	chr6:36807352-36807353	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373299600	chr6:36807432-36807433	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs9470416	chr6:36807592-36807593	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs564729538	chr6:36807617-36807618	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs74921040	chr6:36807633-36807634	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs186587167	chr6:36807638-36807639	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs547069609	chr6:36807679-36807680	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs559121449	chr6:36807778-36807779	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs529710784	chr6:36807786-36807787	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs547851316	chr6:36807800-36807801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs13193536	chr6:36807864-36807865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs79364928	chr6:36807877-36807878	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs538527014	chr6:36807891-36807892	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs550442381	chr6:36807976-36807977	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs575035394	chr6:36808004-36808005	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs571847095	chr6:36808038-36808039	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs539168524	chr6:36808068-36808069	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs554322186	chr6:36808082-36808083	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs191836193	chr6:36808104-36808105	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs148144950	chr6:36808113-36808114	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs183953511	chr6:36808116-36808117	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs141933289	chr6:36808154-36808155	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs370091303	chr6:36808207-36808208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs576326941	chr6:36808293-36808294	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs543311386	chr6:36808310-36808311	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36798600-36806800	Weak transcription	Ovary	ovary
2	chr6:36803200-36806600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:36803800-36806600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr6:36804000-36807000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:36804000-36808200	Active TSS	Brain Anterior Caudate	brain
6	chr6:36805200-36807200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr6:36805600-36806800	Active TSS	Right Atrium	heart
8	chr6:36805800-36807000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:36806000-36808000	Active TSS	Left Ventricle	heart
10	chr6:36806200-36806600	Active TSS	Fetal Brain Female	brain
11	chr6:36806200-36806600	Active TSS	Right Ventricle	heart
12	chr6:36806200-36808200	Active TSS	Brain Angular Gyrus	brain
13	chr6:36806200-36808400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:36806400-36806600	Enhancers	Fetal Brain Male	brain
15	chr6:36806400-36806800	Active TSS	Brain Cingulate Gyrus	brain
16	chr6:36806400-36806800	Active TSS	Brain Hippocampus Middle	brain
17	chr6:36806400-36807000	Flanking Active TSS	Fetal Heart	heart
18	chr6:36806400-36807000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
19	chr6:36806400-36807400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr6:36806600-36806800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr6:36806600-36806800	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:36806600-36806800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:36806600-36806800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:36806600-36806800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:36806600-36806800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:36806600-36806800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr6:36806600-36806800	Flanking Active TSS	Fetal Brain Male	brain
28	chr6:36806600-36806800	Flanking Active TSS	Right Ventricle	heart
29	chr6:36806600-36807000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr6:36806600-36807000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr6:36806600-36807000	Bivalent Enhancer	Primary T cells from cord blood	blood
32	chr6:36806600-36807000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
33	chr6:36806600-36807000	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr6:36806600-36807000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
35	chr6:36806600-36807000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr6:36806600-36807000	Flanking Active TSS	Fetal Brain Female	brain
37	chr6:36806600-36807000	Bivalent Enhancer	Fetal Lung	lung
38	chr6:36806600-36807000	Enhancers	Gastric	stomach
39	chr6:36806600-36807200	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr6:36806600-36807400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr6:36806600-36807400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
42	chr6:36806600-36807600	Enhancers	Lung	lung
43	chr6:36806600-36808000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr6:36806600-36808200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:36806600-36808200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
46	chr6:36806600-36808400	Bivalent/Poised TSS	Fetal Kidney	kidney
47	chr6:36806600-36809000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr6:36806600-36809000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr6:36806600-36809000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:36806600-36809000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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